Natural resistance-associated macrophage protein (Nramp1) and the vitamin D receptor (VDR) are central components of the innate and adaptive immunity againstMycobacterium tuberculosis, and associations between susceptibility to tuberculosis and polymorphisms in the genesNRAMPandVDRhave been sought in geographically diverse populations. We investigated associations ofNRAMP1andVDRgene polymorphisms with susceptibility to TB in the Venezuelan population. The results suggest the absence of any association betweenVDRvariantsFokI, ApaI, andTaqIand susceptibility to tuberculosis. In contrast, theNRAMP1 3′UTRvariants were associated with susceptibility toM. tuberculosisinfection, as seen in the comparisons between TST+ and TST− controls, and also with progression to TB disease, as shown in the comparisons between TB patients and TST+ controls. This study confirms the previously described association of theNRAMP1 3′UTRpolymorphism withM. tuberculosisinfection and disease progression.

Background: Prostate cancer is the third cause of cancer death in men in the Western hemisphere and the second cause of cancer death in Zulian men from Venezuela.Objective: To determine whether polymorphisms 308 and 238 of the tumor necrosis factor alpha (TNF-α) gene are associated with prostate cancer.Methods: The DNA that was extracted from the peripheral blood of 40 patients with prostatic specific antigen and 40 controls was amplified by PCR plus digestion with enzymes NcoI and MspI.Results: In the patients, genotypes of the TNF-α-238 polymorphism were observed in 90% GG and 10% GA; in controls, in 97.5% GG and 2.5% GA, odds ratio (OR) = 4,000 for GA. In the patients, genotypes of TNF-α-308 polymorphism were identified in 85% GG and 15% GA, and in controls in 72.5% GG and 27.5% GA, OR = 0.545 for GA and 1.172 for GG. The allelic frequencies for TNF-α-238 in patients were 95% for G and 5% for A; in controls, 98.75% for G and 1.25% for A, with OR = 4,000 for A. The allelic frequencies for TNF-α-308 in the patients were 92.5% for G and 7.5% for A.Conclusions: There weren’t any statistically significant associations. The allele A of the TNF-α-238 polymorphism resulted in a considerable risk factor for prostate cancer.

Although the number of people infected withT. cruziis on the rise, host genetic and immune components that are crucial in the development of the Chagas disease have been discovered. We investigated the frequency of polymorphisms in the gene encoding haptoglobin of patients with chronic Chagas disease. The results suggest that while theHP1-1genotype may confer protection against infection and the development of chronic Chagas disease due to the rapid metabolism of the Hp1-1-Hb complex and its anti-inflammatory activity, the presence ofHP2-2genotype may increase susceptibility towards a chronic condition of the disease due to a slow metabolism of the Hp2-2-Hb complex, lower antioxidant activity, and increased inflammatory reactivity, which lead to cell damage and a deterioration of the cardiac function. Finally, correlations betweenHPgenotypes in different age groups and cardiac manifestations suggest thatHPpolymorphism could influence the prognosis of this infectious disease. This study shows some of the relevant aspects of the haptoglobin gene polymorphism and its implications in theT. cruziinfection.

Purpose: Fasting or postprandial hypertriglyceridemia is considered an independent cardiovascular disease (CVD) risk factor. The intestinal fatty acid binding protein (FABP2) is involved in the intracellular transport and metabolism of fatty acids. The presence of the Ala54Thr polymorphism of the FABP2 gene appears to be involved in postprandial hypertriglyceridemia. We explored the possible association of the Ala54Thr polymorphism with fat intolerance in apparently healthy, fasting, normolipidemic subjects with normal body-mass index and without diabetes. Methodology: A total of 158 apparently healthy individuals were classified as fat tolerant (n = 123) or intolerant (n = 35) according to their response (plasma triglycerides) to an oral abbreviated tolerance test with blood samples taken at 0, 2 and 4 h. At 0 h, all subjects ingested 26.3 g of fats. Presence of the Ala54Thr polymorphism of the FABP2 gene was evaluated by polymerase chain reaction–restriction fragment length (PCR–RFLP). Results: The group with fat intolerance (postprandial hypertriglyceridemia group) showed an increased frequency of the Thr54Thr genotype when compared with the group with normal fat tolerance (control group) (23% vs. 4%, respectively, OR: 16.53, 95% CI: 4.09–66.82, p: 0.0001, pc: 0.0003). Carriers of at least one Thr54 allele were up to six times more prevalent in the fat intolerant group than in the non-carriers. (OR: 6.35; 95% CI: 1.86–21.59, p: 0.0003, pc: 0.0009). The levels of plasma triglycerides (Tg) at 4 h after the test meal were higher in carriers of at least one 54Thr allele than in carriers of the Ala54 allele (p < 0.05). Conclusions: There is a significant association between postprandial hypertriglyceridemia and the presence of at least one 54Thr allele of the FABP2 gene. In addition, subjects with this genotype showed an increased ratio of Tg/HDL-cholesterol. This parameter is a marker of increased CVD risk and insulin resistance.